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Concept: European American

367

 To estimate differences in annual income of physicians in the United States by race and sex adjusted for characteristics of physicians and practices.

Concepts: United States, Poverty in the United States, U.S. state, Race, White American, Household income in the United States, European American, Indigenous peoples of the Americas

215

Background For more than a decade, risk stratification for hypertrophic cardiomyopathy has been enhanced by targeted genetic testing. Using sequencing results, clinicians routinely assess the risk of hypertrophic cardiomyopathy in a patient’s relatives and diagnose the condition in patients who have ambiguous clinical presentations. However, the benefits of genetic testing come with the risk that variants may be misclassified. Methods Using publicly accessible exome data, we identified variants that have previously been considered causal in hypertrophic cardiomyopathy and that are overrepresented in the general population. We studied these variants in diverse populations and reevaluated their initial ascertainments in the medical literature. We reviewed patient records at a leading genetic-testing laboratory for occurrences of these variants during the near-decade-long history of the laboratory. Results Multiple patients, all of whom were of African or unspecified ancestry, received positive reports, with variants misclassified as pathogenic on the basis of the understanding at the time of testing. Subsequently, all reported variants were recategorized as benign. The mutations that were most common in the general population were significantly more common among black Americans than among white Americans (P<0.001). Simulations showed that the inclusion of even small numbers of black Americans in control cohorts probably would have prevented these misclassifications. We identified methodologic shortcomings that contributed to these errors in the medical literature. Conclusions The misclassification of benign variants as pathogenic that we found in our study shows the need for sequencing the genomes of diverse populations, both in asymptomatic controls and the tested patient population. These results expand on current guidelines, which recommend the use of ancestry-matched controls to interpret variants. As additional populations of different ancestry backgrounds are sequenced, we expect variant reclassifications to increase, particularly for ancestry groups that have historically been less well studied. (Funded by the National Institutes of Health.).

Concepts: Genetics, United States, Sequence, Hypertrophic cardiomyopathy, White American, African American, European American, English American

107

The US has higher infant mortality than peer countries. In this paper, we combine micro-data from the US with similar data from four European countries to investigate this US infant mortality disadvantage. The US disadvantage persists after adjusting for potential di erential reporting of births near the threshold of viability. While the importance of birth weight varies across comparison countries, relative to all comparison countries the US has similar neonatal (<1 month) mortality but higher postneonatal (1-12 months) mortality. We document similar patterns across Census divisions within the US. The postneonatal mortality disadvantage is driven by poor birth outcomes among lower socioeconomic status individuals.

Concepts: Childbirth, Infant, United States, Socioeconomic status, Milk, Infant mortality, Europe, European American

99

Long-standing racial differences in US life expectancy suggest that black Americans would be exposed to significantly more family member deaths than white Americans from childhood through adulthood, which, given the health risks posed by grief and bereavement, would add to the disadvantages that they face. We analyze nationally representative US data from the National Longitudinal Study of Youth (n = 7,617) and the Health and Retirement Study (n = 34,757) to estimate racial differences in exposure to the death of family members at different ages, beginning in childhood. Results indicate that blacks are significantly more likely than whites to have experienced the death of a mother, a father, and a sibling from childhood through midlife. From young adulthood through later life, blacks are also more likely than whites to have experienced the death of a child and of a spouse. These results reveal an underappreciated layer of racial inequality in the United States, one that could contribute to the intergenerational transmission of health disadvantage. By calling attention to this heightened vulnerability of black Americans, our findings underscore the need to address the potential impact of more frequent and earlier exposure to family member deaths in the process of cumulative disadvantage.

Concepts: United States, Black people, Race, White American, White people, African American, Racism, European American

54

Despite the well-established association between baseline depressive symptoms and risk of all cause-mortality, limited information exists on racial differences in the residual effects of baseline depressive symptoms above and beyond socioeconomic status (SES) and physical health on this link. The current study compared Blacks and Whites for the residual effects of depressive symptoms over SES and health on risk of long-term all-cause mortality in the U.S.

Concepts: United States, Black people, United Kingdom, Race, White American, European American, Nationalism, Indigenous peoples of the Americas

53

Over the past 500 years, North America has been the site of ongoing mixing of Native Americans, European settlers, and Africans (brought largely by the trans-Atlantic slave trade), shaping the early history of what became the United States. We studied the genetic ancestry of 5,269 self-described African Americans, 8,663 Latinos, and 148,789 European Americans who are 23andMe customers and show that the legacy of these historical interactions is visible in the genetic ancestry of present-day Americans. We document pervasive mixed ancestry and asymmetrical male and female ancestry contributions in all groups studied. We show that regional ancestry differences reflect historical events, such as early Spanish colonization, waves of immigration from many regions of Europe, and forced relocation of Native Americans within the US. This study sheds light on the fine-scale differences in ancestry within and across the United States and informs our understanding of the relationship between racial and ethnic identities and genetic ancestry.

Concepts: United States, Race, Native Americans in the United States, North America, Caribbean, American Civil War, European American, English American

50

The objectives of this study were to determine the age-standardized and age-specific annual US cervical cancer mortality rates after correction for the prevalence of hysterectomy and to evaluate disparities by age and race.

Concepts: Human papillomavirus, Cervical cancer, United States, Hysterectomy, Race, European American, Nationalism, Indigenous peoples of the Americas

42

To evaluate trends in premature death rates by cause of death, age, race, and urbanization level in the United States.

Concepts: Hawaii, Death, Demography, United States, Race, White American, Mexican American, European American

41

The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the representation of ancestry information. Here we describe a framework for the accurate and standardized description of sample ancestry, and validate it by application to the NHGRI-EBI GWAS Catalog. We confirm known biases and gaps in diversity, and find that African and Hispanic or Latin American ancestry populations contribute a disproportionately high number of associations. It is our hope that widespread adoption of this framework will lead to improved analysis, interpretation, and integration of human genomics data.

Concepts: United States, Demographics of the United States, Spanish language, Interpretation, Latin America, European American, English American, Ancestor

39

Ovarian cancer is the fifth leading cause of cancer death among women in the United States. This study reports ovarian cancer survival by state, race, and stage at diagnosis using data from the CONCORD-2 study, the largest and most geographically comprehensive, population-based survival study to date.

Concepts: United States, Poverty in the United States, U.S. state, Ovarian cancer, Race, White American, European American, Indigenous peoples of the Americas